Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Sympk'

630073

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

1500016F02Rik, 4632415H16Rik

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18758321-18788542 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 18787373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000023882] [ENSMUST00000023882] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000146903]

AlphaFold

Q80X82

Predicted Effect

probably null
Transcript: ENSMUST00000023882

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
low complexity region	106	118	N/A	INTRINSIC
Pfam:DUF3453	119	352	1.1e-63	PFAM
low complexity region	473	485	N/A	INTRINSIC
Pfam:Symplekin_C	887	1068	4.3e-78	PFAM
low complexity region	1123	1149	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000023882

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
low complexity region	106	118	N/A	INTRINSIC
Pfam:DUF3453	119	352	1.1e-63	PFAM
low complexity region	473	485	N/A	INTRINSIC
Pfam:Symplekin_C	887	1068	4.3e-78	PFAM
low complexity region	1123	1149	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000023882

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
low complexity region	106	118	N/A	INTRINSIC
Pfam:DUF3453	119	352	1.1e-63	PFAM
low complexity region	473	485	N/A	INTRINSIC
Pfam:Symplekin_C	887	1068	4.3e-78	PFAM
low complexity region	1123	1149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035521

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	191	685	2.3e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076887

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	188	287	3e-18	PFAM
Pfam:Radial_spoke	285	433	4.6e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130328

SMART Domains

Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Symplekin_C	1	92	3.9e-44	PFAM
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130328

SMART Domains

Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Symplekin_C	1	92	3.9e-44	PFAM
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130328

SMART Domains

Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Symplekin_C	1	92	3.9e-44	PFAM
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146903

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:DUF3453	117	230	1.1e-35	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,329,824 (GRCm39)	L93H	unknown	Het
A2ml1	A	G	6: 128,549,045 (GRCm39)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,750,413 (GRCm39)	C658F		Het
Arid2	T	G	15: 96,266,592 (GRCm39)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,143,170 (GRCm39)	D46E	probably damaging	Het
Brca2	T	A	5: 150,459,634 (GRCm39)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,498,260 (GRCm39)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,030,445 (GRCm39)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,437,516 (GRCm39)	S340F	probably damaging	Het
Camta2	A	G	11: 70,576,903 (GRCm39)	W41R	probably damaging	Het
Cbl	A	T	9: 44,074,696 (GRCm39)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,488,864 (GRCm39)	D1208E	probably benign	Het
Cd177	A	T	7: 24,443,842 (GRCm39)	M752K	probably damaging	Het
Cep290	A	T	10: 100,380,793 (GRCm39)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,668,698 (GRCm39)	I206F	probably damaging	Het
Cyp2c40	A	G	19: 39,791,009 (GRCm39)	L274S	probably benign	Het
Cyp2c40	T	A	19: 39,791,015 (GRCm39)	Y272F	probably benign	Het
Cyp2d22	C	A	15: 82,258,556 (GRCm39)	A102S	probably benign	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dchs2	T	C	3: 83,262,929 (GRCm39)	F3066L	probably benign	Het
Disp1	C	A	1: 182,869,192 (GRCm39)	R1076L	probably damaging	Het
Dkk2	C	T	3: 131,791,801 (GRCm39)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,165,964 (GRCm39)	F543S	probably benign	Het
Dpt	A	T	1: 164,624,481 (GRCm39)	S61C	probably damaging	Het
Drg2	A	T	11: 60,353,096 (GRCm39)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,228,040 (GRCm39)	L1878V	possibly damaging	Het
F5	A	G	1: 164,036,509 (GRCm39)	Y1890C	probably benign	Het
Fat1	T	C	8: 45,405,739 (GRCm39)	V830A	probably damaging	Het
Fat2	C	T	11: 55,186,965 (GRCm39)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,983,618 (GRCm39)	Y322C	probably benign	Het
Fcsk	A	G	8: 111,622,604 (GRCm39)	F108S	probably damaging	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Gabrb2	A	G	11: 42,488,370 (GRCm39)	I279V	probably damaging	Het
Galk2	T	C	2: 125,773,189 (GRCm39)	F207S	probably damaging	Het
Gtpbp3	C	T	8: 71,941,480 (GRCm39)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,714,446 (GRCm39)	D460V	probably benign	Het
Herc1	G	A	9: 66,400,462 (GRCm39)	V4329I	probably damaging	Het
Iqcn	T	C	8: 71,162,067 (GRCm39)	V420A	probably benign	Het
Kirrel3	G	A	9: 34,946,460 (GRCm39)	V740M	probably damaging	Het
Macf1	C	A	4: 123,263,660 (GRCm39)	V6956L	probably damaging	Het
Mill1	C	T	7: 17,989,835 (GRCm39)	A39V	probably benign	Het
Mkln1	T	A	6: 31,469,588 (GRCm39)	Y599*	probably null	Het
Mrpl14	T	A	17: 46,009,039 (GRCm39)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,119,418 (GRCm39)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndst2	A	T	14: 20,778,232 (GRCm39)	V449D	probably damaging	Het
Nell1	T	A	7: 49,770,335 (GRCm39)	H131Q	probably benign	Het
Nos3	G	C	5: 24,572,218 (GRCm39)	R97P	probably benign	Het
Npc1	A	T	18: 12,327,297 (GRCm39)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,249,802 (GRCm39)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1j1	A	T	2: 36,702,330 (GRCm39)	L258H	probably damaging	Het
Or4c110	T	C	2: 88,832,712 (GRCm39)		probably benign	Het
Or5b98	A	T	19: 12,931,366 (GRCm39)	T138S	probably benign	Het
Or6c210	A	G	10: 129,495,933 (GRCm39)	D86G	probably damaging	Het
Osmr	T	C	15: 6,845,102 (GRCm39)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,010,301 (GRCm39)	I74V	possibly damaging	Het
Pakap	A	G	4: 57,886,319 (GRCm39)	T859A	possibly damaging	Het
Phldb3	C	A	7: 24,326,134 (GRCm39)	A572D	probably damaging	Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,735,947 (GRCm39)	E674G	probably benign	Het
Ptpru	G	A	4: 131,520,903 (GRCm39)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,829,631 (GRCm39)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,333,448 (GRCm39)	R1429*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnpep	A	T	1: 135,211,514 (GRCm39)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,027,791 (GRCm39)	I394F	probably damaging	Het
Satb2	A	T	1: 56,870,623 (GRCm39)	V572D	possibly damaging	Het
Sds	T	C	5: 120,617,001 (GRCm39)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,595,032 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,056,300 (GRCm39)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,840,609 (GRCm39)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm39)	F136V	probably benign	Het
Slfn14	T	A	11: 83,174,119 (GRCm39)	K291*	probably null	Het
Sp100	A	G	1: 85,624,819 (GRCm39)	K403E	possibly damaging	Het
Spaca1	C	T	4: 34,049,837 (GRCm39)	E54K	possibly damaging	Het
Syne1	A	T	10: 5,067,031 (GRCm39)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,677,772 (GRCm39)	I67L	probably benign	Het
Tha1	T	C	11: 117,759,323 (GRCm39)	K389E	probably benign	Het
Thbs2	T	A	17: 14,900,584 (GRCm39)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,679,218 (GRCm39)		probably null	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,149,564 (GRCm39)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,168,007 (GRCm39)	S1507P	probably damaging	Het
Uckl1	A	G	2: 181,215,049 (GRCm39)	I268T	probably damaging	Het
Uvrag	T	C	7: 98,641,174 (GRCm39)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,250,483 (GRCm39)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,626 (GRCm39)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,669,052 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,135,154 (GRCm39)	C187S	possibly damaging	Het

Other mutations in Sympk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Sympk	APN	7	18,781,498 (GRCm39)	missense	probably benign	0.14
IGL01834:Sympk	APN	7	18,777,360 (GRCm39)	missense	probably benign	0.02
IGL02588:Sympk	APN	7	18,776,550 (GRCm39)	missense	probably benign
IGL02601:Sympk	APN	7	18,782,794 (GRCm39)	missense	probably benign	0.31
IGL02645:Sympk	APN	7	18,786,349 (GRCm39)	missense	probably damaging	0.99
IGL02698:Sympk	APN	7	18,779,559 (GRCm39)	missense	probably benign	0.35
IGL02709:Sympk	APN	7	18,781,463 (GRCm39)	missense	probably benign	0.26
IGL02814:Sympk	APN	7	18,787,198 (GRCm39)	missense	probably damaging	1.00
IGL03198:Sympk	APN	7	18,778,921 (GRCm39)	missense	possibly damaging	0.92
butterfinger	UTSW	7	18,782,378 (GRCm39)	missense	probably damaging	0.98
fifth_avenue	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
IGL02991:Sympk	UTSW	7	18,764,502 (GRCm39)	missense	probably damaging	1.00
R0391:Sympk	UTSW	7	18,780,774 (GRCm39)	missense	probably benign	0.06
R1036:Sympk	UTSW	7	18,782,378 (GRCm39)	missense	probably damaging	0.98
R1872:Sympk	UTSW	7	18,763,070 (GRCm39)	missense	probably benign
R2058:Sympk	UTSW	7	18,777,454 (GRCm39)	missense	probably damaging	1.00
R2103:Sympk	UTSW	7	18,788,041 (GRCm39)	missense	probably benign
R2966:Sympk	UTSW	7	18,764,469 (GRCm39)	missense	probably damaging	1.00
R3110:Sympk	UTSW	7	18,768,409 (GRCm39)	missense	possibly damaging	0.69
R3112:Sympk	UTSW	7	18,768,409 (GRCm39)	missense	possibly damaging	0.69
R3703:Sympk	UTSW	7	18,774,486 (GRCm39)	missense	probably damaging	0.99
R3775:Sympk	UTSW	7	18,769,880 (GRCm39)	missense	probably damaging	1.00
R3930:Sympk	UTSW	7	18,781,447 (GRCm39)	missense	possibly damaging	0.90
R4638:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4639:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4645:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4688:Sympk	UTSW	7	18,788,335 (GRCm39)	missense	probably benign
R5050:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5051:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5052:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5092:Sympk	UTSW	7	18,776,584 (GRCm39)	missense	probably benign	0.17
R5211:Sympk	UTSW	7	18,769,814 (GRCm39)	missense	probably benign	0.22
R5591:Sympk	UTSW	7	18,787,964 (GRCm39)	missense	probably damaging	1.00
R5678:Sympk	UTSW	7	18,783,397 (GRCm39)	critical splice donor site	probably null
R5972:Sympk	UTSW	7	18,780,749 (GRCm39)	missense	probably benign
R6387:Sympk	UTSW	7	18,786,423 (GRCm39)	missense	possibly damaging	0.94
R6543:Sympk	UTSW	7	18,770,755 (GRCm39)	missense	probably damaging	1.00
R6984:Sympk	UTSW	7	18,771,968 (GRCm39)	missense	probably benign	0.00
R7141:Sympk	UTSW	7	18,788,017 (GRCm39)	missense	probably benign
R7292:Sympk	UTSW	7	18,769,955 (GRCm39)	missense	probably benign	0.01
R7319:Sympk	UTSW	7	18,769,770 (GRCm39)	missense	probably benign
R7887:Sympk	UTSW	7	18,768,364 (GRCm39)	missense	possibly damaging	0.69
R8147:Sympk	UTSW	7	18,770,718 (GRCm39)	missense	probably damaging	0.98
R8409:Sympk	UTSW	7	18,786,363 (GRCm39)	missense	probably benign	0.11
R9075:Sympk	UTSW	7	18,776,563 (GRCm39)	missense	probably benign	0.00
R9126:Sympk	UTSW	7	18,778,873 (GRCm39)	missense	possibly damaging	0.83
R9482:Sympk	UTSW	7	18,771,986 (GRCm39)	missense	possibly damaging	0.50
RF064:Sympk	UTSW	7	18,768,320 (GRCm39)	frame shift	probably null
X0017:Sympk	UTSW	7	18,774,588 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CAGGTATGGAAGTACCCCAAG -3'
(R):5'- TTAATGAGCGGACGTCTTGG -3'

Sequencing Primer
(F):5'- CCAAGGTATGGGAGGGCTTCATC -3'
(R):5'- ACAGGTAGGTGGGCGTC -3'

Posted On

2020-06-30